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Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
BACKGROUND: To explore the molecular genetic cause of a four-generation autosomal dominant congenital cataract family in China. METHODS: Targeted region sequencing was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was const...
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| Pubblicato in: | BMC Ophthalmol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7678044/ https://ncbi.nlm.nih.gov/pubmed/33218330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-020-01725-1 |
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